Multiple gene mutations in autism spectrum

13 February 2009

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Category: Research & medical benefits

autism–test.jpgResearchers using mice have further evidence that more than one gene is involved in people with genetic-based autism, with the number of genes involved being linked to the severity of the disorder.

Autism is not classed as a single disorder as there is a great diversity in symptoms and severity, which vary from patient to patient. The group of autistic spectrum disorders (ASDs) ranges from severe autism to the milder Asperger Syndrome. Studies of patients with ASDs have shown that bigger brains mean more severe behavioural problems.

The team found two genes that when mutated can cause autism-like  symptoms in mice. They discovered that mice with mutations in either one of these genes had larger brains, whereas mutations in both genes resulted in an even larger brain. In female mice, those with a single mutation became socially impaired, and more so if both the genes were mutated. The scientists concluded that an interaction between the two genes influences both brain growth and sociability.

Future work will study how genes, environment and medicines affect  these animals' autism-related traits. This could lead to the development of therapies that target the signalling pathways between these interacting genes to alleviate some of the symptoms of ASDs.